ClinVar Miner

Submissions for variant NM_000492.3(CFTR):c.1766+1G>T (rs121908748)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CFTR2 RCV000046464 SCV000924270 pathogenic Cystic fibrosis 2017-12-08 reviewed by expert panel research
Myriad Women's Health, Inc. RCV000046464 SCV001193845 likely pathogenic Cystic fibrosis 2019-12-04 criteria provided, single submitter clinical testing NM_000492.3(CFTR):c.1766+1G>T(aka 1898+1G>T) is classified as likely pathogenic in the context of cystic fibrosis. Sources cited for classification include the following: PMID 7537147, 15480987, 10671057, 18456578 and 16049310. Classification of NM_000492.3(CFTR):c.1766+1G>T(aka 1898+1G>T) is based on the following criteria: The variant is located at a canonical splice site, is expected to disrupt gene function and is reported in individuals with the relevant phenotype. Please note: this variant was assessed in the context of healthy population screening.
CeGaT Praxis fuer Humangenetik Tuebingen RCV001090999 SCV001246816 pathogenic not provided 2017-01-01 criteria provided, single submitter clinical testing

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